Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants
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Publisher
Journal
Nature Communications
ISSN
2041-1723
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Cerebral small vessel disease is a major cause of stroke and dementia, but its genetic basis is
incompletely understood. We perform a genetic study of three MRI markers of the disease in
UK Biobank imaging data and other sources: white matter hyperintensities (N = 42,310),
fractional anisotropy (N = 17,663) and mean diffusivity (N = 17,467). Our aim is to better
understand the disease pathophysiology. Across the three traits, we identify 31 loci, of which
21 were previously unreported. We perform a transcriptome-wide association study to
identify associations with gene expression in relevant tissues, identifying 66 associated genes
across the three traits. This genetic study provides insights into the understanding of the
biological mechanisms underlying small vessel disease.